Variant report

Variant	rs714380
Chromosome Location	chr11:4059653-4059654
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1013351	0.85[EUR][1000 genomes]
rs10500590	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10767702	0.84[EUR][1000 genomes]
rs10767713	0.82[EUR][1000 genomes]
rs10767715	0.84[EUR][1000 genomes]
rs10767767	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767811	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835311	0.84[EUR][1000 genomes]
rs10835312	0.83[EUR][1000 genomes]
rs10835331	0.84[EUR][1000 genomes]
rs10835340	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835359	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835399	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835402	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835403	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835406	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835407	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10835454	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10835474	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10835508	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835521	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835540	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835545	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835554	0.85[ASN][1000 genomes]
rs10835556	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835557	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835561	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835596	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835597	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835601	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835604	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030276	0.84[EUR][1000 genomes]
rs11030579	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030580	0.83[ASN][1000 genomes]
rs11030599	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11030627	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11030631	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030639	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030660	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030781	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11493482	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12223176	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12281293	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12283447	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12286710	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12290747	0.84[EUR][1000 genomes]
rs12295138	0.81[EUR][1000 genomes]
rs1349583	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1442726	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1452047	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17081	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17279635	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2119987	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419002	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898947	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4910590	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910596	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910597	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910598	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910866	0.84[EUR][1000 genomes]
rs4910868	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4910869	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910875	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910877	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910880	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66503725	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66596383	0.86[EUR][1000 genomes]
rs67065286	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67300156	0.86[EUR][1000 genomes]
rs7102215	0.84[EUR][1000 genomes]
rs7128762	0.84[EUR][1000 genomes]
rs720571	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935824	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950153	0.83[EUR][1000 genomes]
rs963998	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs995498	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs714380	RRM1	cis	Thyroid	GTEx
rs714380	RRM1	cis	Artery Tibial	GTEx
rs714380	STIM1	cis	lung	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
2	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
3	chr11:4046000-4061400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:4047400-4061400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:4047800-4077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:4048000-4060000	Weak transcription	NHDF-Ad	bronchial
7	chr11:4048000-4077600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:4048400-4061400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:4048400-4061800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr11:4048400-4062000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:4048400-4063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:4048400-4065800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:4048600-4077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:4049600-4070600	Weak transcription	Thymus	Thymus
15	chr11:4049800-4065400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:4050200-4070800	Weak transcription	Fetal Thymus	thymus
17	chr11:4051000-4080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:4051200-4070200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:4051400-4065400	Weak transcription	Pancreas	Pancrea
20	chr11:4054800-4065000	Weak transcription	Liver	Liver
21	chr11:4055200-4061800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:4056600-4061800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:4057400-4076800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:4058200-4070800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:4058800-4065400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:4058800-4065600	Weak transcription	Primary B cells from cord blood	blood
27	chr11:4058800-4070800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:4059200-4076800	Weak transcription	GM12878-XiMat	blood
29	chr11:4059600-4060400	Strong transcription	Primary T cells from cord blood	blood

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